Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E542Splc
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MYBPC3

NM_000256.3:p.E542Splc

Associated Papers

Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics.

Tucholski T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32968017 (PubMed )
Supplement: pnas.2006764117.sapp.pdf

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

Núñez L et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2013

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